RESUMO
The present paper describes a family with daughter and son affected with clinical characteristics of Pierre Robin's anomaly. The pedigree suggests an autosomal recessive inheritance pattern. The authors mention that in order to have more genetic evidence on this trait, an extensive study of families, with at least one proband should be made for a correct genetic analysis.
Assuntos
Síndrome de Pierre Robin/genética , Criança , Feminino , Genes Recessivos , Humanos , Recém-Nascido , Masculino , LinhagemRESUMO
The present paper describes a case of spondyloepiphyseal dysplasia congenita (S.D.C.), a heritable bone dysplasia manifested at birth and characterized by short stature and retarded ossification of vertebral bodies, pelvis and extremities. Differential diagnosis which is important for genetic counselling purposes is established between S.D.C. and Morqu's disease, diastrophic dwarfism, metatropic dwarfism, psuedoachondroplasia and hypoachondroplasia.